Canonical Allele Identifier: CA2473783362

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508270G= , CM000663.2:g.45508270G=	GRCh38
NC_000001.10:g.45973942G= , CM000663.1:g.45973942G=	GRCh37
NC_000001.9:g.45746529G=	NCBI36
NG_013378.1:g.13087G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.335G= MANE Select	ENSP00000383840.4:p.Arg112=
ENST00000401061.8:c.335G=	ENSP00000383840.4:p.Arg112=
ENST00000616135.1:c.164G=	ENSP00000478859.1:p.Arg55=
NM_015506.2:c.335G=	NP_056321.2:p.Arg112=
XM_005270724.3:c.140G=	XP_005270781.1:p.Arg47=
XM_011541204.1:c.164G=	XP_011539506.1:p.Arg55=
NM_001330540.1:c.164G=	NP_001317469.1:p.Arg55=
XM_005270724.5:c.140G=	XP_005270781.1:p.Arg47=
NM_015506.3:c.335G= MANE Select	NP_056321.2:p.Arg112=
NM_001330540.2:c.164G=	NP_001317469.1:p.Arg55=